The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.

@article{GarcaCastro2010TheSO,
  title={The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.},
  author={M{\'o}nica Garc{\'i}a-Castro and Cristina Garc{\'i}a and J Rodr{\'i}guez Reguero and Ana Miar and Jos{\'e} Manuel Rub{\'i}n and Victoria {\'A}lvarez and C{\'e}sar Mor{\'i}s and E. Coto},
  journal={Revista espanola de cardiologia},
  year={2010},
  volume={63 7},
  pages={856-9}
}
Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence of this gene in 25 Spanish patients with Brugada syndrome. In 4 (16%), we found mutations that had not previously been described: three were amino acid changes (i.e. Ala2>Thr, Ala735>Thr and Val1340>Ile) and one was an intron mutation that affected… CONTINUE READING